Learn About Congenital Muscular Dystrophy Type 1A

What is the definition of Congenital Muscular Dystrophy Type 1A?
Congenital muscular dystrophy type 1A (MDC1A) belongs to a group of neuromuscular disorders that beings at birth or infancy and is characterized mainly by hypotonia, muscle weakness and muscle wasting. Other signs and symptoms include rigidity of the spine; scoliosis; and delayed, limited motor development, with most individuals needing assistive devices for mobility. Respiratory problems, feeding disorders and seizures may also occur. With time, affected individuals may develop an elongated face and ophthalmoplegia disorders (paralysis or weakness in muscles of the eye). Intellectual development is typically normal. It is caused by genetic changes in the LAMA2 gene and is inherited in an autosomal recessive manner.
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What are the alternative names for Congenital Muscular Dystrophy Type 1A?
  • Congenital muscular dystrophy type 1A
  • Muscular dystrophy white matter spongiosis
  • LAMA2-related muscular dystrophy
  • Laminin alpha-2 deficiency
  • MDC1A
  • Merosin-deficient congenital muscular dystrophy
  • Merosin-negative congenital muscular dystrophy
  • Muscular dystrophy, congenital, merosin-deficient
  • Atrophie blanche
Who are the top Congenital Muscular Dystrophy Type 1A Local Doctors?
SS
Sarah J. Smith
Distinguished
Highly rated in
1
conditions

University Of Toronto

Rady Faculty Of Health Sciences, Max Rady College Of Medicine, 
Winnipeg, MB, CA 

Sarah Smith practices in Winnipeg, Canada. Smith is rated as a Distinguished expert by MediFind in the treatment of Congenital Muscular Dystrophy Type 1A. She is also highly rated in 1 other condition, according to our data. Her top areas of expertise are Congenital Muscular Dystrophy Type 1A, Anorexia, and Food Allergy.

ML
Dr. Michael I. Lieberman
Internal Medicine
Distinguished
Highly rated in
12
conditions
Internal Medicine

OHSU

OHSU Primary Care Clinic, Marquam Hill

3270 Sw Pavilion Loop, 
Portland, OR 

Michael Lieberman is an Internal Medicine expert in Portland, Oregon. Lieberman has been practicing medicine for over 32 years and is rated as a Distinguished expert by MediFind in the treatment of Congenital Muscular Dystrophy Type 1A. He is also highly rated in 12 other conditions, according to our data. His top areas of expertise are Congenital Fiber-Type Disproportion, Benign Autosomal Dominant Myopathy, Rigid Spine Syndrome, and Collagen VI-Related Myopathy.

 
 
 
 
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MD
Madeleine Durbeej
Distinguished
Highly rated in
2
conditions

Lund University

Lund, M, SE 

Madeleine Durbeej practices in Lund, Sweden. Durbeej is rated as a Distinguished expert by MediFind in the treatment of Congenital Muscular Dystrophy Type 1A. She is also highly rated in 2 other conditions, according to our data. Her top areas of expertise are Congenital Muscular Dystrophy Type 1A, Walker-Warburg Syndrome, Duchenne Muscular Dystrophy, and Fukuyama Type Muscular Dystrophy.

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Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Congenital Muscular Dystrophy Type 1A?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.